Jump to content
International Collaboration For Dog Health And Welfare. Join Us.

GM1 Gangliosidosis

General

Disease Name
GM1 Gangliosidosis
OMIA
402
Gene Name
GLB1
Mutation
c.1647delC
Mutation 2
c.1688_1706ins19bp dup
Mutation 3
c.200G>A
OMIM
230500
Disease Code
GM1
Test Type
Genetic Disease/Disorder
Details
Gangliosidosis is a rare metabolic disorder in dogs. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM1: proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Details 2
Gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by breed-specific mutations. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM1: proportional dwarfism & neurologic dysfunction ( 6-8 weeks of age). Clinical progression leading to death (< 1 year of age).
Patents/ Licences
License: OptiGen, for the Portuguese Water Dog - US.(please note that patent and licensing laws and coverage vary by country)
Published
Yamato, O., Ochiai, K., Masuoka, Y., Hayashida, E., Tajima, M., Omae, S., Iijima, M., Umemura, T., Maede, Y. :GM1 gangliosidosis in shiba dogs Veterinary Record 146:493-496, 2000. Pubmed reference: 10887996.
Published 2
Kreutzer, R., Leeb, T., Muller, G., Moritz, A., Baumgartner, W. :A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005. Pubmed reference: 15944348. DOI: 10.1534/genetics.105.042580.
Published 3
Wang, Z.H., Zeng, B., Shibuya, H., Johnson, G.S., Alroy, J., Pastores, G.M., Raghavan, S., Kolodny, E.H.: Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis 23:593-606, 2000. Pubmed reference: 11032334
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
galactosidase, beta 1
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.